Canonical Allele Identifier: CA1020402
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs779348404
ExAC: 1:115226801 TA / T
gnomAD v2: 1-115226801-TA-T
MyVariant Identifiers: chr1:g.115226802del (hg19) chr1:g.114684181del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684181del , CM000663.2:g.114684181del GRCh38
NC_000001.10:g.115226802del , CM000663.1:g.115226802del GRCh37
NC_000001.9:g.115028325del NCBI36
NG_008012.1:g.16375del

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.535+18del ENSP00000358551.4:n.535+18del
ENST00000520113.7:c.547+18del MANE Select ENSP00000430075.3:n.547+18del
ENST00000637080.1:c.550+18del ENSP00000489753.1:n.550+18del
ENST00000639077.1:n.212+18del
ENST00000369538.3:c.634+18del ENSP00000358551.3:n.634+18del
ENST00000485564.3:n.421+18del
ENST00000520113.6:c.646+18del ENSP00000430075.2:n.646+18del
NM_000036.2:c.646+18del NP_000027.2:n.646+18del
NM_001172626.1:c.634+18del NP_001166097.1:n.634+18del
NM_000036.3:c.547+18del MANE Select NP_000027.3:n.547+18del
NM_001172626.2:c.535+18del NP_001166097.2:n.535+18del
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